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Pars Genome Lab, Pars Genome

General information

Pars Genome Lab, Pars Genome

Negin alborz bldg, Jahanshahr St, Beheshti Ave, Karaj, Iran
Karaj
Tehran
Iran - 3144816818
http://parsgenomelab.com
Organization ID: 507685

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 642

Gene

GeneSubmissionsLast Updated
ABCA41May 28, 2023
ABCB61Sep 22, 2021
ABCC877Jul 10, 2021
ABCD11May 28, 2023
ACADVL1Jun 12, 2021
ACSF31May 26, 2021
ADA1May 26, 2021
ADAMTS21Jun 12, 2021
AGPS1Jun 12, 2021
ALMS13Jun 12, 2021
ALS21May 28, 2023
AOPEP1May 26, 2021
AR1Feb 21, 2022
ARSA6Jun 23, 2021
ARSB6Jul 3, 2021
ASH1L1May 18, 2022
ASS11May 26, 2021
ATM2Jun 12, 2021
ATP6V0A41Dec 22, 2021
ATP6V1B11Jun 12, 2021
BBS101Jul 12, 2021
BBS128Jun 23, 2021
BBS21May 26, 2021
BLM3Jun 12, 2021
BRCA21Aug 9, 2021
BTD1May 26, 2021
C10orf1052Jun 12, 2021
C11orf652Jun 12, 2021
CACNA1F2May 28, 2023
CACNA1G1Feb 6, 2023
CAPN35May 28, 2023
CDH234Jun 12, 2021
CEP2902Jun 12, 2021
CERS31Feb 1, 2024
CFTR6Jun 12, 2021
CFTR-AS21Jun 12, 2021
CHKB1Jul 26, 2021
CHKB-CPT1B1Jul 26, 2021
CLRN15Jun 23, 2021
CNGA31Oct 4, 2021
COL4A31May 26, 2021
COL6A11Feb 6, 2023
CPT1A1May 26, 2021
CPT22May 26, 2021
CRB12May 26, 2021
CTXN2-AS11Feb 21, 2022
CYP27A11Jun 12, 2021
DCLRE1C2Jun 12, 2021
DDX3X1Jun 25, 2022
DHCR71May 26, 2021
DMD5Jun 12, 2021
DNAH570Jun 23, 2021
DNAH5-AS115Jun 23, 2021
DNAI21Jun 12, 2021
DYSF5Jun 12, 2021
ECM11Aug 9, 2021
EIF2B51Jun 23, 2021
EMD1Jun 12, 2021
EPS81Mar 6, 2022
ETFDH2Jun 23, 2021
EVC29Jun 23, 2021
EYS5Jun 12, 2021
FANCA1Jun 12, 2021
FANCC1May 26, 2021
FBN11Sep 8, 2021
FOXG11Nov 27, 2023
G6PC11Dec 22, 2021
GAA2Jun 12, 2021
GALT1Jun 12, 2021
GATAD11May 26, 2021
GBE111Jun 23, 2021
GCDH1May 26, 2021
GCK1May 28, 2023
GFM11Jun 12, 2021
GFPT11Oct 4, 2021
GH-LCR1May 28, 2023
GJB213Jul 28, 2021
GLB130Jun 23, 2021
GNS3Jul 12, 2021
GUCY2D1Jan 12, 2022
HADHA1Jun 12, 2021
HLCS1May 26, 2021
HOGA11Jun 12, 2021
HOXD131Jun 27, 2022
HSD3B21May 26, 2021
IDUA1Jun 12, 2021
KCNJ1110Jul 10, 2021
LAMA21May 28, 2023
LAMA31Jul 23, 2022
LAMB32Feb 6, 2023
LDLR1Jun 12, 2021
LOC1074575851Jun 23, 2021
LOC1075481121May 28, 2023
LOC11012147112Jul 10, 2021
LOC1116744721Jun 12, 2021
LOC1116744771May 26, 2021
LOC1118119651Jun 2, 2021
LOC1268073182Jun 23, 2021
LOC1268073231Feb 9, 2023
LOC1268596901Jul 3, 2021
LOC1268628601May 26, 2021
LOC1299351721Jun 12, 2021
LOC1299360561Jun 23, 2021
LOC1299364344Jun 23, 2021
LOC1299380081Jun 23, 2021
LOC1299936311Jul 3, 2021
LOXHD11Jun 12, 2021
MAFA1May 28, 2023
MCCC111Jun 23, 2021
MCCC212Jul 3, 2021
MCOLN11May 26, 2021
MFF-DT1May 26, 2021
MFSD81Jun 12, 2021
MIR4733HG1Jun 2, 2021
MKS11Jun 12, 2021
MMAA4Jun 23, 2021
MMAB6Jul 12, 2021
MMACHC1May 26, 2021
MMUT9Jul 3, 2021
MPEG11Jul 23, 2022
MPI1Jun 12, 2021
MTHFR1May 26, 2021
MTRR11Jul 3, 2021
MTTP1May 26, 2021
MYO7A4May 18, 2022
MYOC1Jul 23, 2022
NEB4Jun 12, 2021
NF14May 28, 2023
NPC11Jun 12, 2021
NPHS12Jun 12, 2021
NPR21Jan 16, 2022
NTRK12May 26, 2021
OFD11Feb 6, 2023
OTC1Jun 12, 2021
PAH14Jul 12, 2021
PCCA9Jul 12, 2021
PCDH155Jun 12, 2021
PDHB7Jun 23, 2021
PEX11May 26, 2021
PEX22Jun 12, 2021
PFKM15Jul 12, 2021
PHF31May 26, 2021
PITX11Sep 25, 2021
PKD11Jul 26, 2021
PKHD157Jul 3, 2021
PLXNB3-AS11May 28, 2023
POC1A1Feb 6, 2023
POMGNT12May 26, 2021
PYGM1May 26, 2021
RAG11Jun 2, 2021
RARS21Jun 12, 2021
REN1May 28, 2023
RET1Mar 6, 2022
RIF12Jun 12, 2021
RPE652Nov 10, 2021
SACK1H1May 28, 2023
SACS5Jun 12, 2021
SCN1A-AS11May 28, 2023
SCN4A1May 28, 2023
SCN9A1May 28, 2023
SGCA1May 26, 2021
SGCB2Jun 23, 2021
SGCG6Jul 12, 2021
SLC12A11Feb 21, 2022
SLC12A62Jun 12, 2021
SLC22A59Jun 23, 2021
SLC25A131Jun 12, 2021
SLC26A41May 26, 2021
SLC39A41Jun 12, 2021
SLC7A71Jun 12, 2021
STAR1Jun 12, 2021
SUMF17Jun 23, 2021
SYCE21May 26, 2021
TBC1D231May 28, 2023
TCIRG11Jun 12, 2021
TENM41Aug 9, 2021
TGM61Aug 31, 2022
TH1Jun 12, 2021
TMPPE4Jun 23, 2021
TNNI21Jul 23, 2022
TPP11Jun 12, 2021
TRAPPC21Feb 6, 2023
TRIO1Feb 9, 2023
TRIOBP1May 18, 2022
TSPAN11May 26, 2021
TYMP1Jun 12, 2021
USH1C1Jun 12, 2021
USH2A5Jun 12, 2021
USH2A-AS11May 26, 2021
VPS13B2Jun 12, 2021
WDR261Feb 6, 2023
WFS11Jul 23, 2022

Condition

NameSubmissionsLast Updated
3 beta-Hydroxysteroid dehydrogenase deficiency1May 26, 2021
3-methylcrotonyl-CoA carboxylase 1 deficiency11Jun 23, 2021
3-methylcrotonyl-CoA carboxylase 2 deficiency12Jul 3, 2021
Abetalipoproteinaemia1May 26, 2021
Achromatopsia 21Oct 4, 2021
Adrenoleukodystrophy1May 28, 2023
Adult polyglucosan body disease5Jun 23, 2021
Agenesis of the corpus callosum with peripheral neuropathy2Jun 12, 2021
Alstrom syndrome3Jun 12, 2021
Amelogenesis imperfecta, hypocalcification type1May 28, 2023
Androgen resistance syndrome1Feb 21, 2022
Ataxia-telangiectasia syndrome2Jun 12, 2021
Autosomal dominant nonsyndromic hearing loss 3A6Jul 28, 2021
Autosomal recessive Alport syndrome1May 26, 2021
Autosomal recessive congenital ichthyosis 91Feb 1, 2024
Autosomal recessive distal renal tubular acidosis1Dec 22, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2A4Jun 12, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2C6Jul 12, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2D1May 26, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2E2Jun 23, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2O1May 26, 2021
Autosomal recessive nonsyndromic hearing loss 1021Mar 6, 2022
Autosomal recessive nonsyndromic hearing loss 1A7Jul 12, 2021
Autosomal recessive nonsyndromic hearing loss 281May 18, 2022
Autosomal recessive nonsyndromic hearing loss 771Jun 12, 2021
Autosomal recessive osteopetrosis 11Jun 12, 2021
Bardet-Biedl syndrome 101Jul 12, 2021
Bardet-Biedl syndrome 128Jun 23, 2021
Bardet-Biedl syndrome 131Jun 12, 2021
Bardet-Biedl syndrome 21May 26, 2021
Bartter disease type 11Feb 21, 2022
Bethlem myopathy 1A1Feb 6, 2023
Biotinidase deficiency1May 26, 2021
Bloom syndrome3Jun 12, 2021
Brachydactyly-elbow wrist dysplasia syndrome1Sep 25, 2021
Breast-ovarian cancer, familial, susceptibility to, 21Aug 9, 2021
Carnitine palmitoyl transferase 1A deficiency1May 26, 2021
Carnitine palmitoyl transferase II deficiency, severe infantile form2May 26, 2021
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1May 28, 2023
Charlevoix-Saguenay spastic ataxia5Jun 12, 2021
Cholestanol storage disease1Jun 12, 2021
Citrullinemia type I1May 26, 2021
Citrullinemia, type II, adult-onset1Jun 12, 2021
Clubfoot1Sep 25, 2021
Cobalamin C disease1May 26, 2021
Cohen syndrome2Jun 12, 2021
Combined malonic and methylmalonic acidemia1May 26, 2021
Congenital blindness1Jan 12, 2022
Congenital lipoid adrenal hyperplasia due to STAR deficency1Jun 12, 2021
Congenital myasthenic syndrome 121Oct 4, 2021
Cystic fibrosis6Jun 12, 2021
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Jun 12, 2021
Diabetes mellitus, permanent neonatal 23Jul 10, 2021
Diabetes mellitus, permanent neonatal 320Jul 10, 2021
Diabetes mellitus, transient neonatal, 219Jul 10, 2021
Diabetes mellitus, transient neonatal, 33Jul 10, 2021
Distal arthrogryposis type 2B11Jul 23, 2022
Duchenne muscular dystrophy5Jun 12, 2021
Dyschromatosis universalis hereditaria 31Sep 22, 2021
Ehlers-Danlos syndrome, dermatosparaxis type1Jun 12, 2021
Ellis-van Creveld syndrome29Jun 23, 2021
FOXG1 disorder1Nov 27, 2023
Familial juvenile hyperuricemic nephropathy type 21May 28, 2023
Familial medullary thyroid carcinoma1Mar 6, 2022
Familial pseudohyperkalemia1Sep 22, 2021
Fanconi anemia complementation group A1Jun 12, 2021
Fanconi anemia complementation group C1May 26, 2021
Finnish congenital nephrotic syndrome2Jun 12, 2021
Geleophysic dysplasia 21Sep 8, 2021
Glaucoma 1, open angle, A1Jul 23, 2022
Glutaric aciduria, type 11May 26, 2021
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Dec 22, 2021
Glycogen storage disease, type II2Jun 12, 2021
Glycogen storage disease, type IV6Jun 23, 2021
Glycogen storage disease, type V1May 26, 2021
Glycogen storage disease, type VII15Jul 12, 2021
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11Jun 12, 2021
Hereditary acrodermatitis enteropathica1Jun 12, 2021
Hereditary insensitivity to pain with anhidrosis2May 26, 2021
Holocarboxylase synthetase deficiency1May 26, 2021
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1May 26, 2021
Hurler syndrome1Jun 12, 2021
Hypercholesterolemia, familial, 11Jun 12, 2021
Hyperinsulinemic hypoglycemia, familial, 119Jul 10, 2021
Hyperinsulinemic hypoglycemia, familial, 24Jul 10, 2021
Hyperinsulinemic hypoglycemia, familial, 31May 28, 2023
Hypokalemic periodic paralysis, type 21May 28, 2023
Immunodeficiency 771Jul 23, 2022
Infantile GM1 gangliosidosis15Jun 23, 2021
Infantile-onset ascending hereditary spastic paralysis1May 28, 2023
Intellectual disability, X-linked 1021Jun 25, 2022
Intellectual disability, autosomal dominant 521May 18, 2022
Islet cell adenomatosis1May 28, 2023
Joubert syndrome 52Jun 12, 2021
Junctional epidermolysis bullosa gravis of Herlitz1Jun 12, 2021
Junctional epidermolysis bullosa, non-Herlitz type1Feb 6, 2023
Laryngo-onycho-cutaneous syndrome1Jul 23, 2022
Leber congenital amaurosis 21May 26, 2021
Leber congenital amaurosis 82May 26, 2021
Leucine-induced hypoglycemia19Jul 10, 2021
Lipid proteinosis1Aug 9, 2021
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Jun 12, 2021
Lysinuric protein intolerance1Jun 12, 2021
MPI-congenital disorder of glycosylation1Jun 12, 2021
Megaconial type congenital muscular dystrophy1Jul 26, 2021
Metachromatic leukodystrophy6Jun 23, 2021
Methylcobalamin deficiency type cblE11Jul 3, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency9Jul 3, 2021
Methylmalonic aciduria, cblA type4Jun 23, 2021
Methylmalonic aciduria, cblB type6Jul 12, 2021
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Feb 9, 2023
Microphthalmia, isolated, with coloboma 71Sep 22, 2021
Mitochondrial DNA depletion syndrome 11Jun 12, 2021
Miyoshi muscular dystrophy 15Jun 12, 2021
Mucolipidosis type IV1May 26, 2021
Mucopolysaccharidosis type 66Jul 3, 2021
Mucopolysaccharidosis, MPS-III-D3Jul 12, 2021
Mucopolysaccharidosis, MPS-IV-B15Jun 23, 2021
Multiple acyl-CoA dehydrogenase deficiency2Jun 23, 2021
Multiple sulfatase deficiency7Jun 23, 2021
Muscular dystrophy, limb-girdle, autosomal dominant 41May 28, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 231May 28, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31May 26, 2021
Nemaline myopathy 24Jun 12, 2021
Neurofibromatosis, type 14May 28, 2023
Neuronal ceroid lipofuscinosis 21Jun 12, 2021
Neuronal ceroid lipofuscinosis 71Jun 12, 2021
Niemann-Pick disease, type C11Jun 12, 2021
Ornithine carbamoyltransferase deficiency1Jun 12, 2021
Partial androgen insensitivity syndrome1Feb 21, 2022
Pendred syndrome1May 26, 2021
Peroxisome biogenesis disorder 1A (Zellweger)1May 26, 2021
Peroxisome biogenesis disorder 5A (Zellweger)2Jun 12, 2021
Phenylketonuria14Jul 12, 2021
Polycystic kidney disease 457Jul 3, 2021
Polycystic kidney disease, adult type1Jul 26, 2021
Pontocerebellar hypoplasia type 61Jun 12, 2021
Pontocerebellar hypoplasia, type 111May 28, 2023
Primary ciliary dyskinesia 370Jun 23, 2021
Primary ciliary dyskinesia 91Jun 12, 2021
Primary hyperoxaluria type 31Jun 12, 2021
Propionic acidemia9Jul 12, 2021
Pyruvate dehydrogenase E1-beta deficiency7Jun 23, 2021
Renal carnitine transport defect9Jun 23, 2021
Renal tubular acidosis with progressive nerve deafness1Jun 12, 2021
Retinitis pigmentosa 201Nov 10, 2021
Retinitis pigmentosa 255Jun 12, 2021
Rhizomelic chondrodysplasia punctata type 31Jun 12, 2021
Severe combined immunodeficiency due to DCLRE1C deficiency2Jun 12, 2021
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1May 26, 2021
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Jun 2, 2021
Severe early-childhood-onset retinal dystrophy1May 28, 2023
Short stature1Jan 16, 2022
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1Feb 6, 2023
Skraban-Deardorff syndrome1Feb 6, 2023
Smith-Lemli-Opitz syndrome1May 26, 2021
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Feb 6, 2023
Spinocerebellar ataxia type 351Aug 31, 2022
Spondyloepiphyseal dysplasia tarda, X-linked1Feb 6, 2023
Synpolydactyly1Jun 27, 2022
TH-deficient dopa-responsive dystonia1Jun 12, 2021
Tremor, hereditary essential, 51Aug 9, 2021
Usher syndrome type 14May 18, 2022
Usher syndrome type 1C1Jun 12, 2021
Usher syndrome type 1D4Jun 12, 2021
Usher syndrome type 1F5Jun 12, 2021
Usher syndrome type 2A5Jun 12, 2021
Usher syndrome type 3A5Jun 23, 2021
Vanishing white matter disease1Jun 23, 2021
Very long chain acyl-CoA dehydrogenase deficiency1Jun 12, 2021
Wolfram syndrome 11Jul 23, 2022
X-linked Emery-Dreifuss muscular dystrophy1Jun 12, 2021
X-linked cone-rod dystrophy 32May 28, 2023